Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
-Gait ataxia (ictal)
Ataxia Ataxia, limb Nausea (ictal) Emotional stress trigger Ataxia (ictal) Gait ataxia -Limb ataxia (interictal) Headache -Gait ataxia (interictal) Nausea Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Dysarthria
Ataxia (ictal) Headache Square wave jerks Dysarthria (ictal) Gait ataxia Ataxia -Gait ataxia (ictal) Nystagmus Nystagmus (interictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Ataxia, limb
Vertigo (ictal) Nystagmus Vomiting (ictal) Square wave jerks Ataxia Ataxia (ictal) Ataxia, limb (ictal) Gait ataxia -Gait ataxia (interictal) Vomiting Headache (ictal) Nystagmus (interictal) -Gait ataxia (ictal) Vertigo Headache Dysarthria (ictal) Dysarthria Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Ataxia (ictal)
Gait ataxia Ataxia -Gait ataxia (ictal) Nystagmus Emotional stress trigger Dysarthria Nausea Dysarthria (ictal) Nausea (ictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Ataxia
Fatigue trigger Diplopia Dysarthria (ictal) Nystagmus Ataxia, limb Nystagmus (interictal) -Gait ataxia (ictal) Emotional stress trigger Headache Gait ataxia Dysarthria (interictal) Ataxia (ictal) Diplopia (ictal) -Gait ataxia (interictal) Headache (ictal) Dysarthria Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Ataxia (ictal)
Nystagmus Ataxia, limb Vomiting -Gait ataxia (ictal) Vertigo (ictal) Vomiting (ictal) Nausea Cerebellar atrophy Gait ataxia Vertigo Ataxia Seizures -Limb ataxia (interictal) Nystagmus (ictal) Nausea (ictal) Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Nystagmus (interictal)
Gait ataxia Ataxia -Gait ataxia (ictal) Nystagmus -Gait ataxia (interictal) Vomiting (ictal) Vomiting Ataxia (ictal) Show more (+6) |
n.a.
|